Imatinib in the Management of Multiple Gastrointestinal Stromal Tumors Associated With a Germline KIT K642E Mutation

2007 ◽  
Vol 131 (9) ◽  
pp. 1393-1396
Author(s):  
Janet Graham ◽  
Maria Debiec-Rychter ◽  
Christopher L. Corless ◽  
Robin Reid ◽  
Rosemarie Davidson ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Germline Mutations ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Pdgfra Gene ◽  
Oncogenic Mutations ◽  
Esophageal Tumors ◽  
Exon 11 ◽  
Cells Of Cajal

Abstract Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gut and are distinguished by expression of CD117 (c-Kit). Oncogenic mutations in the KIT or PDGFRA gene are detected in approximately 85% of sporadic GISTs. In recent years, examples of familial GIST have been reported in which germline mutations of KIT or PDGFRA result in multiple GISTs, skin disorders, and other abnormalities. The most common germline mutations are in KIT exon 11, mutations in exons 8 and 17 have also been described, and there are 2 families with germline PDGFRA mutations. We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal. To our knowledge, this is only the second germline example of this particular mutation. The patient's esophageal tumors were stabilized with imatinib.

Large Omental Metastases of a Gastrointestinal Stromal Tumor

Medicina ◽  
2011 ◽  
Vol 47 (11) ◽  
pp. 86
Author(s):  
Povilas Ignatavičius ◽  
Tomas Petraitis ◽  
Žilvinas Saladžinskas ◽  
Lilija Butkevičienė ◽  
Kristina Žvinienė
Keyword(s):  
Case Report ◽  
Gastrointestinal Tract ◽  
Gastrointestinal Stromal Tumor ◽  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Metastatic Tumor ◽  
Stromal Tumor ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Cells Of Cajal

Gastrointestinal stromal tumors are rare tumors, originating from the interstitial cells of Cajal. They are the most common mesenchymal tumors of the gastrointestinal tract. Metastatic tumor is treated with imatinib mesylate. A case of large metastases of a gastrointestinal stromal tumor to the omentum, diagnosis and treatment principles are presented in this case report.

Gallbladder GIST: A review of literature

2019 ◽  
Vol 92 (1) ◽  
pp. 1-5
Author(s):  
Ashish Gupta
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Case Reports ◽  
Gallbladder Wall ◽  
Postoperative Adjuvant Therapy ◽  
Review Of Literature ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Extensive Search ◽  
Cells Of Cajal

Mesenchymal tumors of the gallbladder are rarely encountered in clinical practice. The Gastrointestinal Stromal tumors(GIST) of the gallbladder are rarely encountered. These tumors most commonly arise from the interstitial cells of cajal(ICC), the pacemakers of the intestinal system. There can be benign as well as malignant form of GIST .The literature on GIST arising from the gallbladder wall is limited to few case reports only.on extensive search of the indexed literature only 9 cases of gallbladder GIST were retrieved. Based on the available literature these tumors are commonly found in females. They usually present with hypochondrial pain with or without other features of cholangitis. These tumors are usually malignant and warrant a radical surgical excision.The data on postoperative adjuvant therapy and survival is limited. The authors are presenting a review of the available literature on this rare pathology.

scholarly journals Clinical Diagnosis of Gastrointestinal Stromal Tumor (GIST): From the Molecular Genetic Point of View

Cancers ◽  
2019 ◽  
Vol 11 (5) ◽  
pp. 679 ◽  
Author(s):  
Chiao-En Wu ◽  
Chin-Yuan Tzen ◽  
Shang-Yu Wang ◽  
Chun-Nan Yeh
Keyword(s):  
Gold Standard ◽  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Molecular Genetic ◽  
Therapeutic Strategies ◽  
Point Of View ◽  
Protein Markers ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Cells Of Cajal

Gastrointestinal stromal tumors (GISTs) originating from the interstitial cells of Cajal are mesenchymal tumors of the gastrointestinal tract and have been found to harbor c-KIT mutations and KIT (CD117) expression since 1998. Later, PDGFRA mutations, SDH alterations, and other drive mutations were identified in GISTs. In addition, more and more protein markers such as DOG1, PKCθ were found to be expressed in GISTs which might help clinicians diagnose CD117-negative GISTs. Therefore, we plan to comprehensively review the molecular markers and genetics of GISTs and provide clinicians useful information in diagnostic and therapeutic strategies of GISTs. Twenty years after the discovery of KIT in GISTs, the diagnosis of GISTs became much more accurate by using immunohistochemical (IHC) panel (CD117/DOG1) and molecular analysis (KIT/PDGFRA), both of which constitute the gold standard of diagnosis in GISTs. The accurately molecular diagnosis of GISTs guides clinicians to precision medicine and provides optimal treatment for the patients with GISTs. Successful treatment in GISTs prolongs the survival of GIST patients and causes GISTs to become a chronic disease. In the future, the development of effective treatment for GISTs resistant to imatinib/sunitinib/regorafenib and KIT/PDGFRA-WT GISTs will be the challenge for GISTs.

scholarly journals Laparoscopic intermediate gastrectomy for treatment of non metastatic gastric gastrointestinal stromal tumors located at the posterior wall and lesser curvature

2021 ◽  
Vol 2 (2) ◽  
Author(s):  
Tommaso Marcucci ◽  
◽  
Elena Falsetti ◽  
Chiara Genzan ◽  
Lorenzo Pandolfini ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Posterior Wall ◽  
Gi Tract ◽  
Pacemaker Cells ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Lesser Curvature ◽  
Laparoscopic Techniques ◽  
Cells Of Cajal

Gastrointestinal Stromal Tumors (GISTs) are rare neoplasms but they represent the most common type of mesenchymal tumors found in the Gastrointestinal (GI) tract [1-5]. GISTs arise from the interstitial cells of Cajal, “Pacemaker Cells”, that play a neuromotor role in normal gut motility [3,6]. They account for < 1% of gastrointestinal tumors with an estimated annual incidence of 10 to 20 cases for one million of the general population [1,2]. Treatment has not yet been standardized, but surgical resection remains the mainstay for non-metastatic GISTs [5]. The use of laparoscopic techniques has been widely debated.

Interstitial cells of Cajal do not harbor c-kit or PDGFRA gene mutations in patients with sporadic gastrointestinal stromal tumors

2009 ◽  
Vol 44 (5) ◽  
pp. 426-431 ◽  
Author(s):  
Takahiko Nakajima ◽  
Shigeharu Miwa ◽  
Takayuki Ando ◽  
Haruka Fujinami ◽  
Shinya Kajiura ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Gene Mutations ◽  
Interstitial Cells ◽  
Stromal Tumors ◽  
Pdgfra Gene ◽  
Cells Of Cajal

scholarly journals Phosphodiesterase 3A: a new player in development of interstitial cells of Cajal and a prospective target in gastrointestinal stromal tumors (GIST)

Oncotarget ◽  
2017 ◽  
Vol 8 (25) ◽  
pp. 41026-41043 ◽  
Author(s):  
Pierre Vandenberghe ◽  
Perrine Hagué ◽  
Steven C. Hockman ◽  
Vincent C. Manganiello ◽  
Pieter Demetter ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Interstitial Cells ◽  
Stromal Tumors ◽  
Cells Of Cajal

266 Accelerated Turnover of Interstitial Cells of Cajal (ICC) from Local Progenitors in a Mouse Model of Gastrointestinal Stromal Tumors (GIST)

2009 ◽  
Vol 136 (5) ◽  
pp. A-51
Author(s):  
Michael R. Bardsley ◽  
Laura Popko ◽  
David L. Young ◽  
Gianrico Farrugia ◽  
Brian P. Rubin ◽  
...  
Keyword(s):  
Mouse Model ◽  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Interstitial Cells ◽  
Stromal Tumors ◽  
Cells Of Cajal

scholarly journals Expression of the Intermediate Filament Nestin in Gastrointestinal Stromal Tumors and Interstitial Cells of Cajal

2001 ◽  
Vol 158 (3) ◽  
pp. 817-823 ◽  
Author(s):  
Tohru Tsujimura ◽  
Chiaki Makiishi-Shimobayashi ◽  
Johan Lundkvist ◽  
Urban Lendahl ◽  
Keiji Nakasho ◽  
...  
Keyword(s):  
Intermediate Filament ◽  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Interstitial Cells ◽  
Stromal Tumors ◽  
Cells Of Cajal

scholarly journals Gastrointestinal stromal tumors (gists): Definition, clinical, histological, immunohistochemical and molecular genetic features and predictors of malignant potential and differential diagnosis

2002 ◽  
Vol 10 (4) ◽  
pp. 267-271 ◽  
Author(s):  
Vesna Zivkovic ◽  
Vuka Katic ◽  
Aleksandar Nagorni ◽  
Ljubinka Velickovic ◽  
Maja Milentijevic ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Molecular Genetic ◽  
Malignant Potential ◽  
Gi Tract ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Cellular Origin ◽  
Genetic Features ◽  
Exon 11 ◽  
Malignant Gists

Gastrointestinal stromal tumors (GISTs) represent a distinct and the most important subset of mesenchymal tumors of the gastrointestinal (GI) tract GISTs occur throughout the GI tract but are usually located in the stomach and small intestine. The cellular origin, differentiation, nomenclature and prognosis of GISTs are controversial. Because GISTs, like the interstitial cells of Cajal, the GI pacemaker cells, express CD117 (c-kit protein), the origin of GISTs from the Cajal cells has recently been suggested. GISTs are also known for their wide variability in clinical behavior and for the difficulty to determine their malignant condition The most reproducible predictors of malignancy are mitotic count >1-5 per10 high-powered fields (HPF), size >5 cm, tumor necrosis, infiltration and metastasis to other sites. However, some tumors with mitotic activity <1/10 HPF may metastasize indicating some uncertainty in malignant potential of GISTs, especially those larger than 5 cm. Recently, mutations in c-kit gene (exon 11) preferentially occur in malignant GISTs and may be a clinically useful adjunct marker in evaluation of GISTs. In conclusion, the strong CD117 expression mostly defines primary GI mesenchymal tumors as GIST. Specific identification of GIST may become clinically important if therapies targeting the c-kit tyrosine kinase activation become available.

scholarly journals Gastrointestinal Stromal Tumors of Small Intestine

2019 ◽  
Vol 05 (03) ◽  
pp. e92-e95 ◽  
Author(s):  
Tanweerul Huda ◽  
Mahendra Pratap Singh
Keyword(s):  
Gastrointestinal Tract ◽  
Interstitial Cells Of Cajal ◽  
Surgical Excision ◽  
Biological Behavior ◽  
Pacemaker Cells ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Cells Of Cajal ◽  
Oncogene Protein

AbstractGastrointestinal stromal tumor (GIST) is defined as mesenchymal tumors of the gastrointestinal tract expressing proto-oncogene protein CD117. They are the most common sarcomatous tumors of the gastrointestinal tract. GISTs are presumed to arise from interstitial cells of Cajal or gastrointestinal pacemaker cells which control gut motility. They have unpredictable biological behavior. Prognosis is dependent on tumor size as well as mitotic count. Radical surgical excision is the treatment of choice. They rarely metastasize to lymph nodes. Imatinib therapy is used as an adjuvant therapy. The follow-up of patients postsurgery is not standardized.

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